Isolated Dislocation of Ocular Lens

Gabriela Acucella¹, Enrico Finale^2, , Gaetano Auletta³ and Andrea Guala¹

¹Department of Pediatrics and Neonatology, Castelli Hospital, Verbania, Italy

²Department of Obstetrics and Gynecology, Castelli Hospital, Verbania, Italy

³University of Eastern Piedmont, Novara, Italy

Cite this paper

Gabriela Acucella, Enrico Finale, Gaetano Auletta and Andrea Guala. Isolated Dislocation of Ocular Lens. American Journal of Medical Case Reports. 2016; 4(3):97-100. doi: 10.12691/AJMCR-4-3-7

Abstract

We describe a case of a child whit isolated dislocated of ocular lens, due to mutation in FBN1 gene. Differential syndromic diagnosis is made and we discuss to importance of clinical follow-up to exclude/confirm cardiologic complications due to Marfan syndrome.

Keywords

Ectopia lentis, Fibrillin 1 gene, Marfan syndrome

Copyright

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

References

[1]	Marfan Syndrome – GeneReviews®; http://www.ncbi.nlm.nih.gov/books/NBK1335/
[2]	Fu Q, Liu P, Lu Q, Wang F, Wang H, Shen W, Xu F, Liu L, Sergeev YV, Sui R. Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family. Mol Vis 20; 812-21,2014.
[3]	Liang C, Fan W, Wu S, Liu Y. Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis. Mol Vis 17:3481-5,2011.
[4]	Pepe G, Lapini I, Evangelisti L, Attanasio M, Giusti B, Lucarini L, Fattori R, Pellicanò G, Scrivanti M, Porciani MC, Abbate R, Gensini GF. Is ectopia lentis in some cases mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up. Mol Vis 13:2242-7,2007.
[5]	Genetics Home Reference; http://www.ghr.nlm.nih.gov/.
[6]	Orphanet Report Series – Prevalence of rare diseases: Bibliographic data , May 2012, Number 1.
[7]	Sangiovanni A., Delfino A., Maccarone M., Antoniazzi E., Arbustivi E., Bianchi P. E. Bollettino della della Società Medico Chirurgica di Pavia 125(3):513. 23.
[8]	Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K,Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics 123:391-8, 2009.
[9]	Laffargue F, Lienhardt-Roussie A, Lacombe D, Delrue MA. Clinical signs of Marfan syndrome in children under 10 years of age. Arch Pediatr 20:1193-200, 2013.
[10]	Stheneur C, Tubach F, Jouneaux M, Roy C, Benoist G, Chevallier B, Boileau C, Jondeau G. Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition. Genet Med 16:246-50, 2014.
[11]	Loeys, B.L., Dietz, H.C., Braverman, A.C., et al. The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics. 47, 77: 476-485. 2010.
[12]	Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Béroud G, Comeglio P, Boileau C, Faivre L, Charteris D, Child AH, Arrno G. The Revised Ghent Nosology; Reclassifying Isolated Ectopia Lentis. Clin Genet 87: 284-7, 2015.